Canonical Allele Identifier: CA456330616

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933421C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304104C>T , CM000669.2:g.76304104C>T	GRCh38
NC_000007.13:g.75933421C>T , CM000669.1:g.75933421C>T	GRCh37
NC_000007.12:g.75771357C>T	NCBI36
NG_008995.1:g.6547C>T , LRG_248:g.6547C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.549C>T MANE Select	ENSP00000248553.6:p.Val183=
ENST00000674547.1:c.*140C>T	ENSP00000502461.1:n.*140C>T
ENST00000674638.1:c.*70C>T	ENSP00000502651.1:n.*70C>T
ENST00000674650.1:c.*59C>T	ENSP00000501628.1:n.*59C>T
ENST00000674965.1:c.*205C>T	ENSP00000501765.1:n.*205C>T
ENST00000675134.1:c.528C>T	ENSP00000501831.1:p.Val176=
ENST00000675226.1:c.*59C>T	ENSP00000502510.1:n.*59C>T
ENST00000675417.1:n.900C>T
ENST00000675538.1:c.*59C>T	ENSP00000502495.1:n.*59C>T
ENST00000675906.1:c.*134C>T	ENSP00000502714.1:n.*134C>T
ENST00000676231.1:c.579C>T	ENSP00000502249.1:p.Val193=
ENST00000248553.6:c.549C>T	ENSP00000248553.6:p.Val183=
ENST00000429938.1:c.45C>T	ENSP00000405285.1:p.Val15=
ENST00000447574.1:c.*713C>T	ENSP00000414357.1:n.*713C>T
NM_001540.3:c.549C>T , LRG_248t1:c.549C>T	NP_001531.1:p.Val183=
NM_001540.4:c.549C>T	NP_001531.1:p.Val183=
NM_001540.5:c.549C>T MANE Select	NP_001531.1:p.Val183=